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Identification of novel mutations in the GRK1 gene in an Algerian family with Oguchi disease

AIM: To describe novel variants in the G protein-coupled receptor kinase 1 (GRK1) gene associated with Oguchi disease and to analyze the different multimodal imaging results. METHODS: Five members of a single family were enrolled, including two confirmed cases of Oguchi disease and three carriers wi...

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Principais autores: Julio Cesar Molina Martín, Gerardo P. García García, Ezequiel Campos Mollo, María Magdalena García Navarro, Luis Alberto Molina Martín, Carmen Desco Esteban, David P. Piñero
Formato: Artigo
Idioma:Inglês
Publicado em: Press of International Journal of Ophthalmology (IJO PRESS) 2026-05-01
coleção:International Journal of Ophthalmology
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Acesso em linha:https://www.ijo.cn/gjyken/article/pdf/20260512
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